When I was in year 6 at primary school, my left knee started to swell and was painful. At first I thought it was a sports injury as I had just started playing table tennis. A few months later, I played table tennis for the whole day at the National Schools Championship and my knee got much worse.
My mum and dad took me to the doctor where I was told I had to go to the hospital straight away. At the hospital a doctor named Helen felt my tummy and said she thought I had a very enlarged spleen. The same day I saw another doctor called Mr Hyer who sent me to Great Ormond Street. The doctors took a lot of blood and I nearly fainted as no blood wanted to come out of my veins that day. Later that day I saw a blood doctor and he told us that he had found some funny cells called ‘Gaucher’ cells in my bone marrow. I had lots of x-rays and scans and a few weeks later I had an appointment to start my Cerezyme infusions. I now have my Cerezyme infusions every two weeks and have started to have them at home.
After the summer holidays I started at my new school and there were lots of children I did not know in my class. When I was at GOSH having one of my treatments, Lee Mead who is the star of the musical ‘Joseph’ visited the ward and my dad took a picture of us together. I took this photo to school and used it to explain to my class about my cells and bone marrow. It made it easier to tell them as I was worried about them making fun of me as some children had done this in my primary school. But everyone liked the photo and my form teacher put it on the notice board for everyone to see.
My work as a radiotherapy radiographer gave me an awareness of the implications of some James’s symptoms but you never want to fear the worst. James had heavy nosebleeds, easily bruised and other small problems but he always seemed to recover quickly.
When he first got sent to the hospital we were aware that they were looking for leukaemia. He had ultrasound scans of his liver and spleen but the blood results did not add up to this diagnosis. We then saw the Haematologist at GOSH where the bone marrow biopsy was carried out and that afternoon was like a roller coaster ride. Good news, no evidence of leukaemia or any other malignancy therefore we could just go back to our local hospital for a rheumatology referral. But as James recovered from the general anaesthetic we were called back in to see the consultant again and we both found ourselves having our spleens examined to see if they were enlarged too. Some cells had been found in his marrow that was identified as Gaucher Cells. We felt very relieved that it wasn’t cancer and we had never heard of Gaucher Disease.
The roller coaster ride of emotions had only just started. Relief and heartbreak. We researched on the internet and met with good and very bad news. We even wondered if one of the cancers might not have been easier to handle.
James had a massive spleen and liver and moderate bone pain, involving his spine and other joints. No one wants their child to suffer, you feel helpless and cannot control events. However James has adapted really well and we wish we were as brave as he is. Now we have seen some improvement in James already and we hope this will continue. We are coming to terms with his condition and adapting our lives around it.
We are grateful to so many people who have been a part of our journey over the past 10 months and would like to say thank you to for all their expertise, care, advice and general helpfulness.
